Lyon, Gholson J., O'Rawe, Jason, Wu, Yiyang, Rope, Alan, Robison, Reid J., Wang, Kai, Swensen, Jeffrey J. (March 2013) Whole Genome Sequencing Analysis of an Idiopathic Intellectual Disability Syndrome. In: ACMG Annual Clinical Genetics Meeting, March 19th-23rd 2013, Phoenix, AZ. (Unpublished)
Preview |
PDF (Poster)
Intell Disability poster American College of Medical Genetics March 2013.pdf - Presentation Available under License Creative Commons Attribution. Download (888kB) | Preview |
Abstract
We present a new idiopathic intellectual disability syndrome accompanied with distinctive facial dysmorphology. X-chromosome inactivation assays reveal skewing in the mother, suggesting the possibility of an X-linked disorder. High-density genotyping arrays were performed on both children revealing no known causal or pathogenic SNVs and no known CNVs that might contribute to the phenotype. Whole genome sequencing was performed with Complete Genomics and subsequent sequence analysis led to the identification of several
| Item Type: | Conference or Workshop Item (Poster) |
|---|---|
| Subjects: | diseases & disorders > congenital hereditary genetic diseases bioinformatics > genomics and proteomics > genetics & nucleic acid processing bioinformatics > genomics and proteomics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes Publication Type > Meeting Abstract diseases & disorders > congenital hereditary genetic diseases > mental retardation bioinformatics > genomics and proteomics > personal genomes bioinformatics > genomics and proteomics > genetics & nucleic acid processing > genomes > personal genomes |
| CSHL Authors: | |
| Communities: | CSHL labs > Lyon lab |
| Depositing User: | Matt Covey |
| Date: | March 2013 |
| Date Deposited: | 11 Apr 2013 15:04 |
| Last Modified: | 21 Feb 2018 17:13 |
| URI: | https://repository.cshl.edu/id/eprint/28122 |
Actions (login required)
 |
Administrator's edit/view item |
